Congenital Femoral Deficiency is the spectrum of severity of femoral deficiency and deformity.

Femoral deficiency results in a lack of integrity, stability, and mobility at the hip and knee.

Femoral deformity results in bone malorientation, malrotation, and soft tissue contracture at the hip and knee.

Causes are uncertain, however, several causative factors are proposed.

Causative factors include sclerotome subtraction; a defect in proliferation & maturation of proximal femoral growth plate; drug intake like thalidomide; and other agents like poor diabetic control, anoxia, ischemia, irradiation, infections, hormones, mechanical energy, thermal injury, etc.

There are several syndromic associations like femoral hypoplasia-unusual facies syndrome, femur-fibula-ulna syndrome, Al-Awadi Rass-Rothschild syndrome, Fuhrmann syndrome, Antley-Bixler syndrome, and Pierre Robin syndrome.

Age at presentation depends on the severity of the condition.

Mildly affected children usually present later in childhood with complaints of limb shortening and abnormal walking patterns. However severely affected children will present at birth with severe shortening of the limb, deformity around the hip and knee, sometimes with foot deficiencies.

Mildly affected children will have a leg length discrepancy of 20 to 30 % with a valgus, lax knee and mild deformity. Whereas severely affected children will have leg length discrepancy of more than 35 to 50% and flexed fixed contracture of hip and knee.

Radiographic views include supine long anteroposterior, lateral views of the pelvis with lower extremities.

Additional views include push, pull, abduction, and adduction views of the pelvis with hips.

Other imaging modalities include arthrography and magnetic resonance imaging.

Treatment is case-specific and depends on the pattern of involvement.

Mildly affected children are treated with biological reconstruction and limb lengthening, whereas severely affected children are treated with ablative reconstruction with prosthetic fitting.

Long term consequences depend on the severity of the condition and initial treatment, so appropriately treated children will have a near-normal life.

However, inappropriately treated children with severe affection will have a disability, morbidity with early arthritis and degeneration of joints.